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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Fetal Diseases
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Accession:DOID:9001984 term browser browse the term
Definition:Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Synonyms:exact_synonym: Embryopathies;   Embryopathy;   Fetal Disease
 primary_id: MESH:D005315;   RDO:0001592
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Fetal Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
G Nos2 nitric oxide synthase 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:19283362 RGD:2313217 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Prkcb protein kinase C, beta IEP associated with Diabetes Mellitus, Experimental;protein:increased expression RGD PMID:15496608 RGD:1625524 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prss8 serine protease 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705055 NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by OMIM:211180 OMIM
ClinVar
PMID:19463982 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD PMID:15547537 PMID:25687566 PMID:25011638 RGD:5128667, RGD:12792243, RGD:12791291 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Lta lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tnf tumor necrosis factor no_association
severity
ISO associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
RGD PMID:15128916 PMID:15128916 RGD:12904055, RGD:12904055 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,170,560...65,189,791 JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
Diabetic Embryopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fadd Fas associated via death domain ISO RGD PMID:26419589 RGD:13792560 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Adssl1 adenylosuccinate synthase like 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar
OMIM
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by OMIM:208150
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:71,333,005...72,252,772 JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2
OMIM
ClinVar
PMID:14504330 PMID:18179903 PMID:18252226 PMID:25741868 PMID:26467025 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3
OMIM
ClinVar
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4
OMIM
ClinVar
PMID:25741868 PMID:30543681 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
JBrowse link
fetal alcohol spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IMP
IEP
RGD PMID:22037411 PMID:23763370 RGD:13210751, RGD:13432044 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Pten phosphatase and tensin homolog IEP Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
JBrowse link
fetal alcohol syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A IEP protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
fetal encasement syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Cocoon syndrome
ClinVar Annotator: match by OMIM:613630
OMIM
ClinVar
PMID:20961246 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
JBrowse link
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor1 adiponectin receptor 1 treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Agt angiotensinogen ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney,urine:
CTD PMID:17537837 PMID:20530295 PMID:26270574 RGD:13432363, RGD:11538508 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP RGD PMID:21303825 RGD:5129179 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP RGD PMID:21303825 RGD:5129179 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
JBrowse link
G Apoe apolipoprotein E IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Arg1 arginase 1 IEP RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:22710965 RGD:9068402 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IEP RGD PMID:3973436 RGD:2303532 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Col2a1 collagen type II alpha 1 chain IEP mRNA:decreased expression:distal epiphyseal plate of femur (rat) RGD PMID:22995397 RGD:8661261 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP RGD PMID:3973436 RGD:2303532 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Cth cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 IEP protein:decreased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IEP mRNA:increased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP
ISO
mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:2306659, RGD:11576317, RGD:11576311 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP mRNA,protein:decreased expression:hippocampus:
mRNA:increased expression:adrenal gland:
mRNA:decreased expression:kidney:
RGD PMID:16380407 PMID:24717552 PMID:12869365 RGD:9588242, RGD:9590296, RGD:9588619 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta IEP mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:12487923 RGD:7771581 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Dusp5 dual specificity phosphatase 5 IEP RGD PMID:16940436 RGD:2317872 NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)
associated with protein:increased expression:serum:
RGD PMID:15695771 PMID:16169656 RGD:12903973, RGD:12904025 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand severity ISO protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:
RGD PMID:23582102 PMID:16169656 RGD:12903972, RGD:12904025 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 IEP mRNA:increased expression:liver
mRNA, protein:decreased expression:liver (rat)
RGD PMID:15448092 PMID:23744881 RGD:2315963, RGD:14695550 NCBI chr10:86,307,400...86,318,766 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide disease_progression IEP RGD PMID:20637157 RGD:12904883 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor disease_progression IEP RGD PMID:20637157 RGD:12904883 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IEP protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IEP RGD PMID:20423831 RGD:13210763 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:22310945 PMID:19147266 RGD:10450795, RGD:12792219 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human)
DNA:deletion:: (human)
RGD PMID:22310945 PMID:19147266 RGD:10450795, RGD:12792219 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IEP mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hdac1 histone deacetylase 1 IDA
IEP
mRNA:increased expression:adrenal gland:
protein:decreased expression, decreased activity:hippocampus:
RGD PMID:18464933 PMID:24717552 PMID:16380407 RGD:2311214, RGD:9590296, RGD:9588242 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 IEP mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IEP associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Igf1 insulin-like growth factor 1 treatment
onset
IEP
ISO
mRNA:decreased expression:liver
human protein in a rat model
protein:decreased expression:placenta labyrinth (rat)
RGD PMID:19088829 PMID:9284279 PMID:24239160 PMID:15506645 RGD:2306715, RGD:12910460, RGD:12904720, RGD:1600258 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor onset ISO
IEP
DNA:point mutation:exon:p.R108Q, p.K115N (human)
protein:increased expression:liver, lung (rat)
protein:decreased expression:placenta labyrinth (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:14657428 PMID:14657428 PMID:12536576 PMID:24239160 RGD:1624299, RGD:12904724, RGD:12904720 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:
CTD PMID:12087403 PMID:16040806 PMID:1408464 RGD:14985247 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment IEP
ISO
protein:increased expression:brain
protein:increased expression:Amniotic fluid:
protein:decreased expression:serum:
mRNA:increased expression:placenta:
DNA:hypermethylation:promoter:
RGD PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 PMID:21924014 More... RGD:10402581, RGD:12743599, RGD:12743590, RGD:12743585, RGD:12743583, RGD:1600258 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Irs1 insulin receptor substrate 1 IEP mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
JBrowse link
G Irs2 insulin receptor substrate 2 IEP RGD PMID:20720385 RGD:7257699 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Lep leptin IDA RGD PMID:21353474 RGD:5128507 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mecp2 methyl CpG binding protein 2 IEP mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:28157488 PMID:17367869 RGD:13204803 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958G>A(human)
DNA:SNP: :401A>G(human)
RGD PMID:22378735 PMID:18771981 PMID:25118499 RGD:12910955, RGD:12914148, RGD:12910958 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Muc1 mucin 1, cell surface associated IEP RGD PMID:19287349 RGD:7349369 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP RGD PMID:19287349 RGD:7349369 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Muc4 mucin 4, cell surface associated IEP RGD PMID:19287349 RGD:7349369 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP
ISO
protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 PMID:25171874 RGD:10412716, RGD:26884462, RGD:26884462 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nos1 nitric oxide synthase 1 IEP associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos2 nitric oxide synthase 2 IEP associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
associated with hyperinsulinemia; protein:decreased expression:placenta
CTD Direct Evidence: marker/mechanism
RNA, protein:increased expression:thoracic aorta:
CTD PMID:22421449 PMID:23667712 PMID:19709742 PMID:29741931 RGD:5132592, RGD:13792602 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP
IDA
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 PMID:20388836 RGD:2308941, RGD:4892120 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
G Otc ornithine transcarbamylase IEP mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 IEP mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 IEP
IDA
mRNA:decreased expression:pancreas (rat)
mRNA:decreased expression:pancreatic islet
RGD PMID:12606515 PMID:18464933 RGD:2311220, RGD:2311214 NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Prdx6 peroxiredoxin 6 ISO
IEP
protein:decreased expression:placenta RGD PMID:25171874 PMID:25171874 RGD:26884462, RGD:26884462 NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Ptger3 prostaglandin E receptor 3 IEP mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 treatment IEP with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: RGD PMID:8018914 RGD:13208595 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sin3a SIN3 transcription regulator family member A IDA RGD PMID:18464933 RGD:2311214 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Slc2a1 solute carrier family 2 member 1 IEP protein:increased expression:placenta
mRNA, protein:increased expression:liver
RGD PMID:11738800 PMID:9886959 RGD:730192, RGD:12879480 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc2a2 solute carrier family 2 member 2 IEP mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Slc38a2 solute carrier family 38, member 2 IEP mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:19017816 RGD:2308805 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 IEP RGD PMID:19017816 RGD:2308805
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tff3 trefoil factor 3 IEP RGD PMID:19287349 RGD:7349369 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Unc13a unc-13 homolog A IEP RGD PMID:18787382 RGD:5686390 NCBI chr16:18,336,229...18,381,811
Ensembl chr16:18,336,229...18,381,872
JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Fetal Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone IEP protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IEP protein:decreased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
JBrowse link
G Egr1 early growth response 1 IDA RGD PMID:23427086 RGD:10395301 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:17310378 RGD:1642145 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
Fetal Macrosomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO
IEP
DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698, RGD:12904767 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Lipc lipase C, hepatic type IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) RGD PMID:10600655 RGD:2308786 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr13:93,539,360...93,564,065 JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,579,851...59,823,977 JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:93,322,653...93,540,706 JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25741868 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:20642338 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25303977 PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,464
Ensembl chr10:62,654,281...62,755,468
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGE Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614732
OMIM
ClinVar
CTD
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24098681 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY ClinVar
OMIM
PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 9:88,801,344...88,808,465 JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125 PMID:29905864 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
JBrowse link
meconium aspiration syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen IEP mRNA:increased expression:lung RGD PMID:14605247 RGD:11039054 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr2 angiotensin II receptor, type 2 treatment IMP RGD PMID:14605247 RGD:11039054 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Atf2 activating transcription factor 2 ISS MouseDO NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO protein:increased expression:broncho-alveolar lavage fluid, meconium RGD PMID:21567110 RGD:5144123 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
Megaduodenum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Megacystis ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism ClinVar PMID:18414213 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia
ClinVar PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
ClinVar Annotator: match by OMIM:210720
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
OMIM
ClinVar
PMID:12210304 PMID:15372530 PMID:18157127 PMID:18174396 PMID:18414213 More... RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16916845 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:25608830 More... NCBI chr 9:87,878,085...87,884,193 JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome
OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:16007586 PMID:19938095 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1
ClinVar Annotator: match by OMIM:256520
OMIM
ClinVar
PMID:11034457 PMID:11055895 PMID:14645240 PMID:19235232 PMID:22393170 More... NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:29879995 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism ClinVar PMID:25741868 NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Perlman syndrome
ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:267000
OMIM
ClinVar
CTD
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
JBrowse link
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609069
OMIM
ClinVar
CTD
PMID:10507728 PMID:15543146 PMID:19650412 PMID:20065546 PMID:21749365 More... NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
ClinVar Annotator: match by OMIM:613676
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 More... RGD:11541118, RGD:11541114 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 More... NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies OMIM
ClinVar
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies ClinVar PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
PMID:24033266 NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar Annotator: match by OMIM:222470
OMIM
ClinVar
PMID:20176027 PMID:21120949 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skiv2l Ski2 like RNA helicase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
ClinVar Annotator: match by OMIM:614602
OMIM
ClinVar
PMID:22444670 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27431780 More... NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Fetal Diseases 251
          Diabetic Embryopathy 1
          Echogenic Bowel 0
          Fetal Growth Retardation + 168
          Fetal Hypoxia 7
          Fetal Macrosomia + 7
          Fetal Nutrition Disorders 1
          Megaduodenum 2
          Multiple Pterygium Syndrome, Lethal Type 4
          Nuchal Cord 0
          Pyelectasis 0
          chorioamnionitis + 10
          fetal alcohol spectrum disorder + 11
          fetal encasement syndrome 1
          fetal erythroblastosis + 52
          meconium aspiration syndrome 4
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2046
          Pregnancy Complications 573
            Fetal Diseases 251
              Diabetic Embryopathy 1
              Echogenic Bowel 0
              Fetal Growth Retardation + 168
              Fetal Hypoxia 7
              Fetal Macrosomia + 7
              Fetal Nutrition Disorders 1
              Megaduodenum 2
              Multiple Pterygium Syndrome, Lethal Type 4
              Nuchal Cord 0
              Pyelectasis 0
              chorioamnionitis + 10
              fetal alcohol spectrum disorder + 11
              fetal encasement syndrome 1
              fetal erythroblastosis + 52
              meconium aspiration syndrome 4
paths to the root